TMPRSS3
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
TMPRSS3 (HGNC:11877) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
transmembrane serine protease 3
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
DFNB10, DFNB8
Alias symbols
No aliases found
%HI
64.12(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.11(Read more about gnomAD LOEUF score)
Cytoband
21q22.3
Genomic Coordinates
GRCh37/hg19: chr21:43791999-43816161 NCBI Ensembl UCSC
GRCh38/hg38: chr21:42371890-42396052 NCBI Ensembl UCSC
MANE Select Transcript
NM_001256317.3 ENST00000644384.2 (Read more about MANE Select)
Function
Probable serine protease that plays a role in hearing. Acts as a permissive factor for cochlear hair cell survival and activation at the onset of hearing and is required for saccular hair cell survival (By similarity). Activates ENaC (in vitro). {ECO:0000250, ECO:0000269|PubMed:12393794}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-22043
ClinGen Curation ID:
CCID:008019
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • autosomal recessive nonsyndromic hearing loss 8 Monarch
HI Evidence Comments:
Variation in TMPRSS3 has been reported in individuals with autosomal recessive nonsyndromic hearing loss (ARNSHL); furthermore, the overall evidence that TMPRSS3, when altered, can cause ARNSHL was expert reviewed by the ClinGen Hearing Loss Working Group (HLWG) and classified as DEFINITIVE.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000021.8) (NC_000021.9)